Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13—implications for cytogenetics and molecular biology

Abstract

We report on a female with a interstitial deletion of 10p13 and a phenotype similar to that seen with the 22q deletion syndromes (DiGeorge/velo‐cardio‐facial). She had a posterior cleft palate, perimembranous ventricular septal defect, dyscoordinate swallowing, T‐cell subset abnormalities, small ears, maxillary and mandibular hypoplasia, broad nasal bridge, deficient alae nasi, contractures of fingers and developmental delay. This could indicate homology of some developmental genes at 22q and 10p so that patients with the velocardiofacial phenotype who do not prove to be deleted on 22q are candidates for a 10p deletion. © 1996 Wiley‐Liss, Inc.

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)

“…33 Moreover, a patient with partial monosomy 10p has been described, who presents with features of VCFS. 31 This stresses the variability of the clinical spectrum of the developmental defect associated with partial monosomy 10p, which is similar to that of monosomy 22q11. In addition to the features of the DGS/VCFS spectrum, several other features can be observed in patients with monosomy 10p, including abnormally shaped skull, microcephaly, hand and foot abnormalities, genitourinary anomalies, hearing loss, and severe psychomotoric retardation (for review see).…”

“…Patient MAR had hypocalcaemia and hypoplastic thymus, 30 whereas MEG had hypoplastic thymus but no hypocalcaemia. 31 They presented with atrial septum and ventricular defects, respectively, heart defects more frequently observed in VCFS than in DGS. In addition, MEG has a cleft palate which is also frequent in VCFS.…”

“…Patient MEG shows typical features of the VCFS including ventricular septal defect, cleft palate and T-cell deficiency. 31 The only YAC which was found to be dizygous in both patients LEM and MEG (747h7) carries a deletion. For the distal YAC 918h11 (D10S547) patient LEM is hemizygous and patient MEG is dizygous.…”

“…23 Most of these cases represent single reports of DGS associated with a specific chromosomal aberration, with the exception of partial monosomy 10p where ten cases have so far been described. Seven of these patients are hemizygous for the segment 10p13-pter, 15,[24][25][26][27][28][29] one patient has a monosomy 10p11-13, 30 one patient has a monosomy 10p12-p13, 31 and one patient with an unbalanced de novo translocation 10p;14q was interpreted to be monosomic for 10p14-pter. 32 The association between partial monosomy 10p and DGS has prompted the definition of a second DGS locus (DGS2) on the short arm of chromosome 10.…”

Chromosomal abnormalities and mental illness

“…53 Interestingly, there have been case reports of phenocopies of the velo-cardio-facial syndrome (VCFS, also known as Shprintzen Syndrome, DiGeorge Sequence, and 22q11 deletion syndrome; see section Chromosome 22q) associated with interstitial deletions at 10p13. 54,55 It should be noted however that psychiatric disorder in these patients has not yet been reported.…”